Incidental Mutation 'R7584:Sec31b'
| ID |
587006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
045667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R7584 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44531762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 49
(D49G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
| AlphaFold |
Q3TZ89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063632
AA Change: D49G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: D49G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
56 |
101 |
5e-18 |
BLAST |
|
WD40
|
110 |
150 |
4.76e-6 |
SMART |
|
WD40
|
159 |
197 |
1.53e1 |
SMART |
|
WD40
|
200 |
245 |
1.85e0 |
SMART |
|
WD40
|
249 |
289 |
2.15e-4 |
SMART |
|
WD40
|
292 |
332 |
6.19e-1 |
SMART |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1009 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111985
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
40 |
1.53e1 |
SMART |
|
WD40
|
43 |
88 |
1.85e0 |
SMART |
|
WD40
|
92 |
132 |
2.15e-4 |
SMART |
|
WD40
|
135 |
175 |
6.19e-1 |
SMART |
|
Pfam:Sec16_C
|
394 |
612 |
1.3e-7 |
PFAM |
|
low complexity region
|
665 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
861 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166808
|
| SMART Domains |
Protein: ENSMUSP00000126763
Gene: ENSMUSG00000091471
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NDUF_B8
|
1 |
71 |
1.5e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.5745 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,626,304 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
T |
C |
3: 30,652,356 (GRCm39) |
K246R |
probably benign |
Het |
| Adam23 |
T |
A |
1: 63,584,621 (GRCm39) |
V343D |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,739,777 (GRCm39) |
Q2036* |
probably null |
Het |
| Ano10 |
A |
G |
9: 122,104,597 (GRCm39) |
I40T |
probably benign |
Het |
| Aoc2 |
T |
A |
11: 101,217,005 (GRCm39) |
C363S |
possibly damaging |
Het |
| Aplp2 |
A |
T |
9: 31,069,077 (GRCm39) |
V584E |
possibly damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,263 (GRCm39) |
T749S |
probably benign |
Het |
| Atm |
A |
T |
9: 53,424,427 (GRCm39) |
F625I |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,824,766 (GRCm39) |
L2387P |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,799,803 (GRCm39) |
G274D |
probably damaging |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,345 (GRCm39) |
D81V |
probably damaging |
Het |
| Ccdc63 |
T |
G |
5: 122,251,267 (GRCm39) |
D381A |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,610,578 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cyp4b1 |
T |
A |
4: 115,485,884 (GRCm39) |
D351V |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,056,353 (GRCm39) |
S562G |
probably damaging |
Het |
| Dgkb |
T |
A |
12: 38,189,391 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
C |
T |
7: 130,690,481 (GRCm39) |
Q905* |
probably null |
Het |
| Dnajc21 |
A |
C |
15: 10,462,381 (GRCm39) |
Y81* |
probably null |
Het |
| Dnali1 |
T |
C |
4: 124,959,331 (GRCm39) |
T21A |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,986,064 (GRCm39) |
L851F |
probably damaging |
Het |
| Dpt |
T |
C |
1: 164,646,477 (GRCm39) |
Y149H |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,512,627 (GRCm39) |
V983A |
unknown |
Het |
| Faf1 |
C |
T |
4: 109,783,154 (GRCm39) |
R549C |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,971,749 (GRCm39) |
N230S |
possibly damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,513 (GRCm39) |
I95N |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,456,798 (GRCm39) |
I721N |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,197 (GRCm39) |
H315R |
probably damaging |
Het |
| Igkv10-95 |
T |
A |
6: 68,657,740 (GRCm39) |
S85R |
possibly damaging |
Het |
| Katnip |
G |
T |
7: 125,469,838 (GRCm39) |
V1436L |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,472,545 (GRCm39) |
T901A |
probably benign |
Het |
| Kremen1 |
C |
T |
11: 5,144,964 (GRCm39) |
V471M |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 26,980,257 (GRCm39) |
D1853Y |
possibly damaging |
Het |
| Lrif1 |
A |
G |
3: 106,639,217 (GRCm39) |
T76A |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,345,818 (GRCm39) |
I495F |
possibly damaging |
Het |
| Ltbr |
G |
T |
6: 125,284,204 (GRCm39) |
Q413K |
probably benign |
Het |
| Ms4a20 |
A |
G |
19: 11,087,725 (GRCm39) |
F69L |
possibly damaging |
Het |
| Myrfl |
T |
A |
10: 116,664,902 (GRCm39) |
Y376F |
probably damaging |
Het |
| Nup50l |
A |
C |
6: 96,142,373 (GRCm39) |
L224V |
probably benign |
Het |
| Nup98 |
G |
T |
7: 101,825,596 (GRCm39) |
N414K |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,109,041 (GRCm39) |
T1383A |
probably damaging |
Het |
| Or4c15 |
G |
A |
2: 88,760,149 (GRCm39) |
P170L |
probably damaging |
Het |
| Or5j1 |
A |
T |
2: 86,879,478 (GRCm39) |
I34N |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,223,901 (GRCm39) |
I133N |
probably damaging |
Het |
| Or7g27 |
C |
A |
9: 19,250,569 (GRCm39) |
T271K |
possibly damaging |
Het |
| Or8b1d |
G |
T |
9: 38,558,191 (GRCm39) |
P210T |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,425 (GRCm39) |
S602T |
possibly damaging |
Het |
| Sall3 |
A |
G |
18: 81,017,745 (GRCm39) |
F61S |
probably benign |
Het |
| Scube1 |
G |
T |
15: 83,606,088 (GRCm39) |
C61* |
probably null |
Het |
| Skic2 |
A |
G |
17: 35,060,651 (GRCm39) |
I822T |
possibly damaging |
Het |
| Slc19a3 |
C |
T |
1: 83,000,469 (GRCm39) |
V183M |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,653 (GRCm39) |
|
probably benign |
Het |
| Sphk2 |
C |
A |
7: 45,361,931 (GRCm39) |
V169L |
probably damaging |
Het |
| Synpo |
C |
A |
18: 60,729,349 (GRCm39) |
R951L |
probably damaging |
Het |
| Tbc1d9b |
G |
A |
11: 50,061,543 (GRCm39) |
C1017Y |
probably damaging |
Het |
| Tmtc4 |
C |
A |
14: 123,215,563 (GRCm39) |
V28F |
probably benign |
Het |
| Tprkb |
A |
G |
6: 85,905,809 (GRCm39) |
I165V |
probably benign |
Het |
| Ttc23l |
T |
A |
15: 10,533,794 (GRCm39) |
I250F |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,336,543 (GRCm39) |
V89A |
probably benign |
Het |
| Ubr3 |
G |
A |
2: 69,821,847 (GRCm39) |
V1370I |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,306 (GRCm39) |
|
probably null |
Het |
| Usp9y |
T |
C |
Y: 1,384,451 (GRCm39) |
Y689C |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,198,895 (GRCm39) |
Y241N |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,472,683 (GRCm39) |
T13A |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,977,456 (GRCm39) |
F131S |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wfdc16 |
A |
T |
2: 164,480,547 (GRCm39) |
|
probably null |
Het |
| Zbtb41 |
T |
A |
1: 139,351,795 (GRCm39) |
Y303N |
probably benign |
Het |
| Zbtb5 |
T |
C |
4: 44,993,678 (GRCm39) |
T569A |
probably benign |
Het |
| Zfp111 |
A |
G |
7: 23,898,025 (GRCm39) |
S530P |
possibly damaging |
Het |
|
| Other mutations in Sec31b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Sec31b
|
APN |
19 |
44,515,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Sec31b
|
APN |
19 |
44,512,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02404:Sec31b
|
APN |
19 |
44,523,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02663:Sec31b
|
APN |
19 |
44,522,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Sec31b
|
APN |
19 |
44,511,554 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02830:Sec31b
|
APN |
19 |
44,520,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03141:Sec31b
|
APN |
19 |
44,514,759 (GRCm39) |
splice site |
probably benign |
|
|
IGL03247:Sec31b
|
APN |
19 |
44,507,379 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0049:Sec31b
|
UTSW |
19 |
44,508,847 (GRCm39) |
splice site |
probably benign |
|
|
R0137:Sec31b
|
UTSW |
19 |
44,522,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Sec31b
|
UTSW |
19 |
44,513,908 (GRCm39) |
unclassified |
probably benign |
|
|
R0239:Sec31b
|
UTSW |
19 |
44,513,908 (GRCm39) |
unclassified |
probably benign |
|
|
R0468:Sec31b
|
UTSW |
19 |
44,506,947 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Sec31b
|
UTSW |
19 |
44,523,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Sec31b
|
UTSW |
19 |
44,512,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Sec31b
|
UTSW |
19 |
44,514,046 (GRCm39) |
missense |
probably benign |
|
|
R0749:Sec31b
|
UTSW |
19 |
44,512,945 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0815:Sec31b
|
UTSW |
19 |
44,506,612 (GRCm39) |
nonsense |
probably null |
|
|
R1162:Sec31b
|
UTSW |
19 |
44,506,087 (GRCm39) |
nonsense |
probably null |
|
|
R1398:Sec31b
|
UTSW |
19 |
44,512,104 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1436:Sec31b
|
UTSW |
19 |
44,524,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1538:Sec31b
|
UTSW |
19 |
44,507,025 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1599:Sec31b
|
UTSW |
19 |
44,511,592 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2044:Sec31b
|
UTSW |
19 |
44,524,595 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2135:Sec31b
|
UTSW |
19 |
44,523,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2167:Sec31b
|
UTSW |
19 |
44,531,792 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2211:Sec31b
|
UTSW |
19 |
44,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Sec31b
|
UTSW |
19 |
44,524,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3113:Sec31b
|
UTSW |
19 |
44,506,624 (GRCm39) |
nonsense |
probably null |
|
|
R4110:Sec31b
|
UTSW |
19 |
44,512,968 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4111:Sec31b
|
UTSW |
19 |
44,512,968 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4113:Sec31b
|
UTSW |
19 |
44,512,968 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4158:Sec31b
|
UTSW |
19 |
44,513,625 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4226:Sec31b
|
UTSW |
19 |
44,520,149 (GRCm39) |
missense |
probably benign |
|
|
R4646:Sec31b
|
UTSW |
19 |
44,515,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Sec31b
|
UTSW |
19 |
44,521,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Sec31b
|
UTSW |
19 |
44,521,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Sec31b
|
UTSW |
19 |
44,520,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4877:Sec31b
|
UTSW |
19 |
44,524,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5150:Sec31b
|
UTSW |
19 |
44,508,970 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5377:Sec31b
|
UTSW |
19 |
44,507,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Sec31b
|
UTSW |
19 |
44,522,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Sec31b
|
UTSW |
19 |
44,511,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6002:Sec31b
|
UTSW |
19 |
44,524,203 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6185:Sec31b
|
UTSW |
19 |
44,531,723 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6675:Sec31b
|
UTSW |
19 |
44,512,214 (GRCm39) |
missense |
probably benign |
|
|
R6946:Sec31b
|
UTSW |
19 |
44,522,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Sec31b
|
UTSW |
19 |
44,507,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Sec31b
|
UTSW |
19 |
44,506,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Sec31b
|
UTSW |
19 |
44,511,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7340:Sec31b
|
UTSW |
19 |
44,517,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7505:Sec31b
|
UTSW |
19 |
44,532,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Sec31b
|
UTSW |
19 |
44,519,995 (GRCm39) |
splice site |
probably null |
|
|
R7763:Sec31b
|
UTSW |
19 |
44,512,274 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7777:Sec31b
|
UTSW |
19 |
44,512,212 (GRCm39) |
nonsense |
probably null |
|
|
R7900:Sec31b
|
UTSW |
19 |
44,514,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Sec31b
|
UTSW |
19 |
44,508,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8057:Sec31b
|
UTSW |
19 |
44,507,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Sec31b
|
UTSW |
19 |
44,512,955 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8739:Sec31b
|
UTSW |
19 |
44,507,620 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8822:Sec31b
|
UTSW |
19 |
44,507,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8837:Sec31b
|
UTSW |
19 |
44,506,106 (GRCm39) |
nonsense |
probably null |
|
|
R8916:Sec31b
|
UTSW |
19 |
44,520,783 (GRCm39) |
missense |
|
|
|
R9069:Sec31b
|
UTSW |
19 |
44,507,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9259:Sec31b
|
UTSW |
19 |
44,505,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Sec31b
|
UTSW |
19 |
44,509,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:Sec31b
|
UTSW |
19 |
44,524,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sec31b
|
UTSW |
19 |
44,505,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACATAACTCCTGTTCCCC -3'
(R):5'- TCCTTGCGGTTACCTCTAGAG -3'
Sequencing Primer
(F):5'- AACATAACTCCTGTTCCCCATACTTC -3'
(R):5'- CCTTGCGGTTACCTCTAGAGAAAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation